Genzyme Corp has presented what it believes is compelling data from a Phase II trial of a new oral compound being developed for the rare genetic disorder Gaucher disease, following the trail of its blockbuster Cerezyme.

Gaucher disease is an inherited, enzyme deficiency disorder and symptoms may include anaemia, fatigue, easy bruising and a tendency to bleed. An enlarged spleen and liver may also occur in Gaucher disease as well as bone pain, degeneration and fractures. Currently, Genzyme's own drug, Cerezyme (imiglucerase), which is given once every two weeks by infusion, is the standard of care for treating the disease and generates annual sales of more than $1 billion.

Now the US biotechnology company is working on Genz-112638, and says initial observations from the first five patients in the Phase II trial (a reasonably significant number given the rarity of the disease) suggest that the drug “may produce a rapid and meaningful impact on important clinical endpoints,” including reductions in spleen and liver volume, as well as an increase in platelet counts and haemoglobin concentration.” Safety observations from all of the patients enrolled to date suggest that the only drug-related adverse events “have been mild and transient in nature, including one possibly related serious adverse event that is currently being investigated.” Full trial results will be available in mid-2008.

Meetings with US, Europe regulators

Genz-112638, a novel ceramide analogue given orally, is designed to inhibit the enzyme glucosylceramide synthase, which results in reduced production of glucocerebroside, the substance that builds up in the cells and tissues of people with Gaucher disease. Based on the positive results seen in the trial to date, Genzyme said it intends to meet with regulatory agencies in the USA and Europe “in the coming weeks to discuss an expedited development strategy”.

David Meeker, president of Genzyme's lysosomal storage disorder business said that “Cerezyme has had a remarkable effect” on the lives of patients with Gaucher disease and about half the 10,000 sufferers known worldwide are on the treatment. With this in mind, he added that “we have set a very high bar for ourselves in trying to develop a convenient oral therapy that can provide a safe and effective choice for patients." In addition to Gaucher disease, there are a variety of other conditions that can be caused by malfunctions in the pathway targeted by Genz-112638, such as Fabry disease, the company said, and it intends to explore studies in this area.

Genzyme was speaking about Genz-112638 at an analysts’ day and a number of brokers like the look of the compound. Shiv Kapoor of Montgomery & Co reiterated his ‘buy’ rating on the stock, noting that interim data was “extremely compelling” and the drug might be used as a monotherapy, post an induction with Cerezyme. Analysts at Robert W Baird reiterated their ‘outperform’ rating, saying that Genzyme’s presentation had “pointed towards the most active product pipeline over the past years” They too highlighted the GENZ-112638, which they said “exhibited extremely promising results”.

Amicus has rival product

However competition might come in the form of Amicus Therapeutics, which has just announced details of an initial public offering of five million shares for an estimated $14 to $16 each. The New Jersey, USA-based firm is developing an oral drug, AT2101, that could compete with Cerezyme and Phase II trials of the compound began in March.